Abstract
Background: Totally endoscopic techniques have become increasingly popular in cardiac surgery, with minimally invasive mitral valve repair emerging as an effective alternative to median sternotomy. This approach could be particularly advantageous for patients with Noonan syndrome, who often present with structural thoracic anomalies and other comorbidities like bleeding disorders. Endoscopic mitral valve surgery is rapidly establishing itself as the new standard of care for mitral valve operations, demonstrating both safety and efficacy. Noonan syndrome is an autosomal-dominant multisystem disorder with variable expression and is the second most common syndromic cause of congenital heart disease, surpassed only by Down syndrome. A wide spectrum of cardiovascular phenotypes is associated with Noonan syndrome, including pulmonary valve stenosis (often with dysplastic valves), hypertrophic cardiomyopathy, secundum atrial septal defect and mitral valve abnormalities. Methods: Given the limited data in the literature regarding the experience of other centers with endoscopic mitral surgery in patients with this condition, we aim to present the case of a 46-year-old male with a known diagnosis of Noonan syndrome who presented to a cardiologist with a 6-month history of dyspnea and fatigue. Transthoracic echocardiography revealed severe mitral regurgitation. Following multidisciplinary discussions within the Heart Team and after obtaining informed consent from the patient and his family, the decision was made to proceed with totally endoscopic mitral valve repair. Results: The patient experienced an uneventful postoperative course and was discharged 8 days after the procedure. In this case, endoscopic surgery was essential for successfully repairing the mitral valve. Structural abnormalities, such as chest wall deformities causing heart malrotation and atypical positioning, significantly impaired visualization. Conclusions: The endoscopic approach provided superior access to the mitral valve, enabling precise and effective repair. Additionally, it offered benefits such as improved esthetic outcomes, faster recovery, and a reduced risk of exacerbating thoracic deformities due to improper sternal bone healing.